Frataxin deficiency leads to defects in expression of antioxidants and Nrf2 expression in dorsal root ganglia of the Friedreich’s ataxia YG8R mouse model

Frataxin deficiency leads to defects in expression of antioxidants and Nrf2 expression in dorsal root ganglia of the Friedreich’s ataxia YG8R mouse model . Dr. Yuxi Shan, Dr. Robert A Schoenfeld, Genki Hayashi, Dr. Eleonora Napoli, Dr. Tasuku Akiyama, Dr. Mirela Iodi-Carstens, Dr. Earl E. Carstens, Dr. Mark A. Pook, and Dr. Gino Cortopassi. Antioxidants & Redox Signaling. -Not available-, ahead of print. doi:10.1089/ars.2012.4537.

"Frataxin expression was significantly correlated with Nrf2 expression"

Keywords: Oxidative stress, Dorsal Root Ganglion (DRG) neurons, transcripts encoding antioxidants, peroxiredoxins, glutaredoxins, glutathione-S-transferase, antioxidant transcription factor Nrf2, frataxin, thioredoxin reductase.

Mitochondria in cardiac hypertrophy and heart failure

Mitochondria in cardiac hypertrophy and heart failure. Mariana G. Rosca, Bernard Tandler, Charles L. Hoppel. Journal of Molecular and Cellular Cardiology, Volume 55, February 2013, Pages 31-41.

Keywords: Heart failure, Cardiac hypertrophy, Mitochondria, Oxidative phosphorylation

Transition metals and mitochondrial metabolism in the heart

Transition metals and mitochondrial metabolism in the heart. Amy K. Rines, Hossein Ardehali, Journal of Molecular and Cellular Cardiology, Volume 55, February 2013, Pages 50-57. http://dx.doi.org/10.1016/j.yjmcc.2012.05.014

Highlights: "FRDA and doxorubicin toxicities are highlighted as disorders of iron deregulation.", "the heart is one of the most mitochondrially-rich tissues in the body"

The molecular basis of iron-induced oligomerization of frataxin and the role of the ferroxidation reaction in oligomerization

The molecular basis of iron-induced oligomerization of frataxin and the role of the ferroxidation reaction in oligomerization . Christopher A. G. Soderberg, Sreekanth Rajan, Aleksander V. Shkumatov, Oleksandr Gakh, Susanne Schaefer, Eva-Christina Ahlgren, Dmitri I. Svergun, Grazia Isaya and Salam Al-Karadaghi. J. Biol. Chem. jbc.M112.442285. First Published on January 23, 2013, doi:10.1074/jbc.M112.442285

Keywords: Iron-induced oligomerization, frataxin, catalyzed ferroxidation, iron availability, iron delivery.

The role of mitochondrial OXPHOS dysfunction in the development of neurologic diseases

The role of mitochondrial OXPHOS dysfunction in the development of neurologic diseases.M.E. Breuer, W.J. Koopman, S. Koene, M. Nooteboom, R.J. Rodenburg, P.H. Willems, J.A.M. Smeitink. Neurobiology of Disease, Volume 51, March 2013, Pages 27-34.

Keywords: Mitochondrial dysfunction, Neurodegenerative diseases, Bioenergetics, Cellular metabolism

Friedreich Ataxia: Neuropathology Revised.

Friedreich Ataxia: Neuropathology Revised.. Koeppen, Arnulf H. MD.; Mazurkiewicz, Jose. Journal of Neuropathology & Experimental Neurology, 72:2 2013 Feb pg 78-90.

Keywords: Friedreich ataxia, Low frataxin levels, iron-sulfur clusters, aconitase, dorsal root ganglia, dorsal columns, transsynaptic atrophy, Clarke column, dorsal spinocerebellar fibers, gracile and cuneate nuclei, sensory nerves, dentate nucleus.

Neuromuscular scoliosis

Neuromuscular scoliosis. R. Vialle, C. Thévenin-Lemoine, P. Mary; Orthopaedics & Traumatology: Surgery & Research, Available online 18 January 2013. DOI: http://dx.doi.org/10.1016/j.otsr.2012.11.002,


Highlight: "Surgical treatment of neuromuscular scoliosis differs from idiopathic scoliosis".
"Non-surgical measures rarely fully control progressive scoliosis".

Keywords: Neuromuscular scoliosis, surgical treatment, idiopathic scoliosis, complications rate, Non-surgical measures, muscular hypotonia.

The Cerebellum Looks Normal in Friedreich Ataxia.

The Cerebellum Looks Normal in Friedreich Ataxia. Mascalchi M.; AJNR Am J Neuroradiol originally published online on January 17, 2013, 10.3174/ajnr.A3480.

No abstract

Friedreich Ataxia: Dysarthria Profile and Clinical Data.

Friedreich Ataxia: Dysarthria Profile and Clinical Data. Brendel B, Ackermann H, Berg D, Lindig T, Schölderle T, Schöls L, Synofzik M, Ziegler W., Cerebellum. 2013 Jan 13. DOI http://dx.doi.org/10.1007/s12311-012-0440-0

Keywords: Friedreich ataxia (FRDA), dysarthria severity, profile of speech motor deficits, disease duration.

NAF Funded Research for FA in 2013

NAF Funded Research for FA in 2013.

Research Grants:

Generation of peripheral sensory neurons from Friedreich’s ataxia human iPS cell lines, Chintawar, Satyan, Ph.D. Université Libre de Bruxelles - Erasme Hospital, Belgium.

YOUNG INVESTIGATOR AWARDS:

Development of new mouse models of Friedreich’s Ataxia Baines, Christopher P., Ph.D., University of Missouri-Columbia, Kansas, MO